Genetic variation in the tau protein phosphatase-2A pathway is not associated with Alzheimer's disease risk

• Published in: BMC research notes Vol. 4; no. 1; p. 327
• Main Authors: Vázquez-Higuera, José L, Mateo, Ignacio, Sánchez-Juan, Pascual, Rodríguez-Rodríguez, Eloy, Pozueta, Ana, Calero, Miguel, Dobato, José L, Frank-García, Ana, Valdivieso, Fernando, Berciano, José, Bullido, Maria J, Combarros, Onofre
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 07.09.2011; BioMed Central; BMC
• Subjects: Alzheimer's disease; Binding proteins; Brain; Genetic aspects; Genetic variation; Genetics; Haplotypes; Hospitals; Kinases; Neurology; Phosphorylation; Physiological aspects; Proteins; Risk factors; Spain
• ISSN: 1756-0500; 1756-0500
• DOI: 10.1186/1756-0500-4-327

Tau abnormal hyperphosphorylation and the formation of neurofibrillary tangles in AD brain is the result of upregulation of tau kinases and downregulation of tau phosphatases. In a group of 729 Spanish late-onset Alzheimer's disease (AD) patients and 670 healthy controls, we examined variations into a set of candidate genes (PPP2CA, PPP2R2A, ANP32A, LCMT1, PPME1 and PIN1) in the tau protein phosphatase-2A (PP2A) pathway, to address hypotheses of genetic variation that might influence AD risk. There were no differences in the genotypic, allelic or haplotypic distributions between cases and controls in the overall analysis or after stratification by age, gender or APOE ε4 allele. Our negative findings in the Spanish population argue against the hypothesis that genetic variation in the tau protein phosphatase-2A (PP2A) pathway is causally related to AD risk.